Protein Dossier — RBP4 (Retinol-binding protein 4)
MR feasibility tier: A — Published pQTL-MR estimates exist for this protein (retrieved below - not computed here).
1. Published MR estimates (retrieved, not computed)
| Outcome |
beta |
se |
p |
method |
nSNP |
cis/trans |
coloc |
| Non-cancer illness code self-reported: vitiligo |
1.24 |
0.346 |
3.17e-04 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: I80 Phlebitis and thrombophlebitis |
0.52 |
0.155 |
7.83e-04 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: K40 Inguinal hernia |
0.237 |
0.0841 |
0.00475 |
Wald ratio |
1 |
cis |
NA |
| Lung cancer |
0.34 |
0.126 |
0.00705 |
Wald ratio |
1 |
cis |
NA |
| Schizophrenia |
0.201 |
0.0816 |
0.014 |
Wald ratio |
1 |
cis |
NA |
| Birth weight |
0.0646 |
0.0265 |
0.0149 |
Wald ratio |
1 |
cis |
NA |
| High grade serous ovarian cancer |
-0.279 |
0.118 |
0.0178 |
Wald ratio |
1 |
cis |
NA |
| Ovarian cancer |
-0.23 |
0.0993 |
0.0203 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: hypothyroidism or myxoedema |
0.148 |
0.0666 |
0.0258 |
Wald ratio |
1 |
cis |
NA |
| Diastolic blood pressure automated reading |
-0.0389 |
0.0177 |
0.0279 |
Wald ratio |
1 |
cis |
NA |
| Forced vital capacity (FVC) |
0.0295 |
0.0142 |
0.0373 |
Wald ratio |
1 |
cis |
NA |
| Amygdala volume |
-36.9 |
17.9 |
0.0387 |
Wald ratio |
1 |
cis |
NA |
| …and 70 more outcomes (see JSON) |
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2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-3641_49_4 |
RBP |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
9 association rows across 6 traits (7 genome-wide significant rows). Associations are loci, not causal claims; the mapped gene at a locus is not necessarily the effector gene.
| Trait |
best p |
lead SNP |
n assoc |
study |
MR status |
| Retinol (Vitamin A) levels |
6e-30 |
rs10882283 |
3 |
GCST90245401 |
no MR -> candidate analysis |
| Retinol-binding protein 4 levels |
8e-24 |
rs36014035 |
1 |
GCST90249256 |
no MR -> candidate analysis |
| Triglyceride levels (UKB data field 30870) |
4e-21 |
rs76582050 |
1 |
GCST90468106 |
no MR -> candidate analysis |
| Blood protein levels |
7e-9 |
rs36014035 |
2 |
GCST006585 |
no MR -> candidate analysis |
| Optic disc area |
4e-8 |
rs10882283 |
1 |
GCST009411 |
no MR -> candidate analysis |
| Colorectal cancer x estrogen-progesterone hormone therapy in |
4e-6 |
rs7091052 |
1 |
GCST90243999 |
no MR -> candidate analysis |
4. Phenome map — where this gene is a genetic locus, vs. where MR exists
Top diseases by Open Targets association (of 1215 total). Associations are loci, not causal claims. The causal-status column is a four-state triage per pair: established (curated) = a curated clinical assertion exists (ClinGen/G2P/GEL/Orphanet/ClinVar — any validity level, MR adds little); exploratory rare-variant signal = ExWAS burden evidence without curation — a candidate NEW gene-disease relationship; common-variant locus = GWAS signal, classic pQTL-MR territory; multi-layer = burden+GWAS together, an allelic-series candidate (the strongest causal setup). Burden estimand is carrier-vs-noncarrier, not per-SD MR.
| Disease |
genetic assoc. |
burden (ExWAS) |
causal status |
MR status |
| progressive retinal dystrophy due to retinol transport defect |
0.766 |
— |
established (curated) |
no MR -> candidate analysis |
| microphthalmia, isolated, with coloboma 10 |
0.758 |
— |
established (curated) |
no MR -> candidate analysis |
| microphthalmia, isolated, with coloboma |
0.608 |
— |
established (curated) |
no MR -> candidate analysis |
| microphthalmia |
0.657 |
— |
established (curated) |
no MR -> candidate analysis |
| Retinal dystrophy |
0.685 |
— |
established (curated) |
no MR -> candidate analysis |
| coloboma |
0.657 |
— |
established (curated) |
no MR -> candidate analysis |
| Bilateral microphthalmos |
0.669 |
— |
established (curated) |
no MR -> candidate analysis |
| open-angle glaucoma |
0.58 |
— |
common-variant locus |
no MR -> candidate analysis |
| hereditary disease |
0.557 |
— |
established (curated) |
no MR -> candidate analysis |
| diabetic ketoacidosis |
0.465 |
— |
common-variant locus |
no MR -> candidate analysis |
| Anophthalmia |
0.438 |
— |
established (curated) |
no MR -> candidate analysis |
| anterior segment dysgenesis |
0.438 |
— |
established (curated) |
no MR -> candidate analysis |
| Unilateral microphthalmos |
0.438 |
— |
established (curated) |
no MR -> candidate analysis |
| Ocular anterior segment dysgenesis |
0.438 |
— |
established (curated) |
no MR -> candidate analysis |
| Abnormality of the eye |
0.426 |
— |
established (curated) |
no MR -> candidate analysis |
Of the 15 rows above, 15 have no MR estimate in this resource. Across all retrieved diseases for this gene: 0 exploratory rare-variant signal(s), 0 multi-layer (allelic-series candidate) pair(s). Final triage still belongs to a statistical geneticist.
5. Downstream annotation (druggability & safety preview)
| Layer |
Result |
| ChEMBL druggability |
0 known modulators (Retinol-binding protein 4) |
| gnomAD constraint |
pLI=0.8, LOEUF=0.599 — LoF-tolerant |
| GWAS Catalog |
56 unique SNPs / 112 rows |
| ClinVar |
228 records; 1 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
no annotations |
phenome — Top 30 of 1215 associated diseases by overall score. genetic_association aggregates GWAS common-variant AND rare-variant evidence. These are ASSOCIATIONS (loci), not causal claims.chembl — ChEMBL target matched by text search on ‘RBP4’ and resolved to ‘Retinol-binding protein 4’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 228 ClinVar records for this gene; it is a sample, not a rate.pharmgkb — No PharmGKB/ClinPGx clinical annotations (gene may not be a pharmacogene).gwas_traits — Top 6 of 6 traits by best p-value, aggregated from 9 association rows. These are GWAS ASSOCIATIONS (loci), not causal claims; mapped genes at a locus are not necessarily the effector gene.
Sources
uniprot: https://www.uniprot.org/uniprotkb/P02753 — UniProt release 2026_02 (10-June-2026)mr_outcomes: https://epigraphdb.org/pqtl/ — EpiGraphDB pQTL MR (Zheng et al., Nat Genet 2020) — pre-computed two-sample MR; retrieved, not computed by this agent; EpiGraphDB build 1.0, pQTL dataset v3.0phenome: https://platform.opentargets.org/target/ENSG00000138207/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL3100/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/RBP4 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/RBP4 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=RBP4%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/RBP4 — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T04:45:59 · Tier: A
- Fully mechanical: every cell above is rendered from tool return values. No language model wrote any part of this dossier.
- MR estimates, where present, are retrieved from published work (EpiGraphDB pQTL, Zheng et al. Nat Genet 2020); nothing is computed here.
- Tool errors this run: none